Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518853
rs1057518853
3 0.882 0.120 X 20161641 splice donor variant -/A delins 0.700 0
dbSNP: rs1559193213
rs1559193213
11 0.807 0.160 2 166036149 frameshift variant -/G delins 0.700 0
dbSNP: rs786200962
rs786200962
7 0.827 0.120 19 13298768 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2018 2018
dbSNP: rs273259
rs273259
1 1.000 0.080 1 78628133 missense variant A/G snv 0.38 0.36 0.710 1.000 1 2014 2014
dbSNP: rs3943809
rs3943809
2 0.925 0.080 2 165344371 intron variant A/G snv 0.20 0.010 1.000 1 2010 2010
dbSNP: rs6746030
rs6746030
16 0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88 0.010 1.000 1 2020 2020
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs121918631
rs121918631
3 0.882 0.080 2 166056450 stop gained A/G;T snv 0.010 1.000 1 2005 2005
dbSNP: rs6432860
rs6432860
4 0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs13306038
rs13306038
1 1.000 0.080 1 186671995 3 prime UTR variant A/T snv 4.6E-03 0.010 1.000 1 2017 2017
dbSNP: rs211014
rs211014
2 0.925 0.080 5 162149412 3 prime UTR variant C/A snv 0.30 0.010 1.000 1 2007 2007
dbSNP: rs7587026
rs7587026
2 0.925 0.080 2 166122240 intron variant C/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs556893466
rs556893466
1 1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs61738009
rs61738009
11 0.827 0.080 8 67483807 stop gained C/A;T snv 4.0E-06; 2.0E-03 2.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs267606837
rs267606837
4 0.851 0.080 5 162097839 missense variant C/G snv 0.010 1.000 1 2014 2014
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.010 1.000 1 2015 2015
dbSNP: rs201439531
rs201439531
11 0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06 0.700 0
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs211037
rs211037
14 0.742 0.240 5 162101274 synonymous variant C/T snv 0.28 0.31 0.050 0.800 5 2012 2018
dbSNP: rs3812718
rs3812718
8 0.776 0.240 2 166053034 splice region variant C/T snv 0.48 0.030 1.000 3 2010 2014
dbSNP: rs121917748
rs121917748
4 0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05 0.010 1.000 1 2002 2002
dbSNP: rs1398830127
rs1398830127
2 0.925 0.080 6 29610981 missense variant C/T snv 4.1E-06 0.010 < 0.001 1 2005 2005
dbSNP: rs16850331
rs16850331
2 0.925 0.080 2 165292743 intron variant C/T snv 0.23 0.010 1.000 1 2010 2010